Mark Busby
A5014001531- Peripheral Neuropathies and Disorders
- Hereditary Neurological Disorders
- Muscle Physiology and Disorders
- Cardiomyopathy and Myosin Studies
- Peripheral Nerve Disorders
- Nerve injury and regeneration
- Long-Term Effects of COVID-19
- RNA Research and Splicing
- Autoimmune Neurological Disorders and Treatments
- Inflammatory Myopathies and Dermatomyositis
- Folate and B Vitamins Research
- Intracranial Aneurysms: Treatment and Complications
- RNA regulation and disease
- RNA and protein synthesis mechanisms
- Pain Mechanisms and Treatments
- Skin and Cellular Biology Research
- Pain Management and Treatment
- Amino Acid Enzymes and Metabolism
- Vascular Malformations Diagnosis and Treatment
- Stroke Rehabilitation and Recovery
- Biotin and Related Studies
- Cellular transport and secretion
- Metabolism and Genetic Disorders
- Monoclonal and Polyclonal Antibodies Research
- Celiac Disease Research and Management
Leeds Teaching Hospitals NHS Trust
2006-2025
Erasmus MC
2021-2023
Aarhus University Hospital
2022-2023
University of Michigan
2023
Bradford Teaching Hospitals NHS Foundation Trust
2013-2022
Saarland University
2022
Erasmus University Rotterdam
2021
Bradford Royal Infirmary
2014
St James's University Hospital
1995-2013
University of Oxford
2000-2003
<b><i>Background: </i></b> Mutations in the fukutin-related protein gene <i>FKRP</i> cause limb-girdle muscular dystrophy (LGMD2I) as well a form of congenital (MDC1C). <b><i>Objective: To define phenotype LGMD2I. <b><i>Methods: The authors assessed 16 patients from 14 families with mutations and LGMD collected results mutation analysis, studies, respiratory cardiac investigations. <b><i>Results: Thirteen patients, most adult presentation, were homozygous for common C826A <i>FKRP</i>. three...
In the wake of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, an increasing number patients with neurological disorders, including Guillain-Barré (GBS), have been reported following this infection. It remains unclear, however, if these cases are coincidental or not, as most publications were case reports small regional retrospective cohort studies. The International GBS Outcome Study is ongoing prospective observational study enrolling within weeks from onset...
<h3>Background and Objectives</h3> Infections play a key role in the development of Guillain-Barré syndrome (GBS) have been associated with specific clinical features disease severity. The variation GBS across geographical regions has suggested to be related differences distribution preceding infections, but this not studied on large scale. <h3>Methods</h3> We analyzed first 1,000 patients included International Outcome Study available biosamples (n = 768) for presence recent infection...
Titin gene (TTN) mutations have been described in eight families with hereditary myopathy early respiratory failure (HMERF). Some of the original patients had features resembling myofibrillar (MFM), arguing that TTN could be a much more common cause inherited muscle disease, especially presence involvement.We studied 127 undiagnosed clinical presentation compatible MFM. Sanger sequencing for two previously HMERF (p.C30071R 119th fibronectin-3 (FN3) domain, and p.R32450W kinase domain) was...
<h3>Objective</h3> To define the current treatment practice of Guillain-Barré syndrome (GBS). <h3>Methods</h3> The study was based on prospective observational data from first 1,300 patients included in International GBS Outcome Study. We described general, and for (1) severe forms (unable to walk independently), (2) no recovery after initial treatment, (3) treatment-related fluctuations, (4) mild (able (5) variant including Miller Fisher syndrome, taking patient characteristics hospital...
To investigate CSF findings in relation to clinical and electrodiagnostic subtypes, severity, outcome of Guillain-Barré syndrome (GBS) based on 1,500 patients the International GBS Outcome Study.
<h3>Background and Objectives</h3> The clinical course outcome of the Guillain-Barré syndrome (GBS) are diverse vary among regions. modified Erasmus GBS Outcome Score (mEGOS), developed with data from Dutch patients, is a model that predicts risk walking inability in patients GBS. study objective was to validate mEGOS International Study (IGOS) cohort improve its performance region specificity. <h3>Methods</h3> We used prospective first 1,500 included IGOS, aged ≥6 years unable walk...
Abstract Guillain-Barré syndrome is an acute polyradiculoneuropathy in which preceding infections often elicit the production of antibodies that target peripheral nerve antigens, principally gangliosides. Anti-ganglioside are thought to play a key role clinical diversity disease and can be helpful practice. Extensive research into associations individual anti-ganglioside antibody specificities has been performed. Recent highlighted glycolipid complexes, combinations may alter binding, as...
To describe the heterogeneity of electrodiagnostic (EDx) studies in Guillain-Barré syndrome (GBS) patients collected as part International GBS Outcome Study (IGOS).Prospectively clinical and EDx data were available 957 IGOS from 115 centers. Only first study was included current analysis.Median timing 7 days (interquartile range 4-11) symptom onset. Methodology varied between centers, countries regions. Reference values responding 103 centers derived locally 49%, publications 37% a...
A 21-year-old man with no medical history presented in 2007 a generalised tonic-clonic seizure. Over the previous 2 months he had experienced intermittent episodes of left-sided paraesthesia. Examination was normal. MR scan brain showed right-sided temporal, parietal and occipital lobe abnormalities. Differential diagnoses included infection, inflammation tumour. Vasculitic thrombophilia screens were negative, serum ACE level Cerebrospinal fluid (CSF) unremarkable, negative results for...
The United Kingdom (UK) Facioscapulohumeral Dystrophy (FSHD) Patient Registry launched in May 2013. Funded by the Muscular Campaign and supported TREAT-NMD Alliance. This patient driven registry collects internationally agreed core dataset, an outcome of ENMC Workshop held 2010 [1], through a novel online portal (http://www.fshd-registry.org/uk). Genetic details are added nominated neuromuscular specialist. In addition questionnaires about pain, quality life scapular fixation included. In...
GNE myopathy is an adult-onset autosomal recessive distal uniquely characterised by quadri- ceps sparing. It was previously described in Japanese patients and a large ethnic cluster identified Jews originating from Iran. Since then, it recognised to have worldwide prevalence with multiple pathogenic variants. While compound heterozygous c.830G>A has been reported, homozygous disease only reported non-Jewish Iranian cohort the Indian subcontinent. Here we report case of apparent Iraqi patient.
The distinction of slow-flow dural carotid-cavernous sinus fistula from high flow lesions is important both a prognostic and management point view, particularly in the elderly. We report case patient which colour duplex imaging orbit provided an effective non-invasive method monitoring vascular abnormality prior to spontaneous resolution fistula.